ProjectCharacterization of genetic profiles and molecular epidemiology of childhood adrenocortical tumors

About

We have identified several recurrent chromosomal alterations in the ACC of children (Letouzé) et al.( ., 2012). This study identified genes and cellular pathways involved in the pathogenesis of these tumors. Another important achievement was defining the exact prevalence of the mutation TP53 R337H in the population of the state of Paraná through a screening program involving approximately 180,000 newborns. Individuals carrying the mutation and their relatives were enrolled in a clinical surveillance program that proved useful in detecting tumors at an early stage in order to offer patients curative surgery (Custódio) et al., 2013).

Our International Associated Laboratory (LIA) CNRS EXPOGEN-CANCER aims to study how the interaction between genetic and environmental factors modulates cancer prevalence. These studies are based on the unique epidemiological situation of the southern Brazilian states, where the prevalence of a specific low-penetrance mutation (R337H) of the tumor suppressor gene is high. TP53 The prevalence of this trait in the germline is very high in the population. The importance of our study extends far beyond its application to even a large population in Latin America, as it has the potential to identify factors involved in cancer development in carriers of other alleles. TP53 with low penetration, present worldwide. Other LIA partners include Pequeno Principe Hospital in Curitiba, PR, Brazil, and St. Jude Children's Research Hospital in Memphis, TN, USA. Our work is based on the long-standing and successful partnership established among LIA participants for over 15 years.